Table 2.
Summary of features of patients described in previous studies
| Feature | Percentage | n/N |
|---|---|---|
| Size | ||
| <1.0 Mb | 24.53 | 26/106 |
| 1–1.6 Mb | 63.21 | 67/106 |
| >1.6 Mb | 12.26 | 13/106 |
| Intellectual deficits | ||
| No | 20.22 | 18/89 |
| Undefined | 11.24 | 10/89 |
| Mild | 40.45 | 36/89 |
| Severe | 28.09 | 25/89 |
| Developmental delay | 41.77 | 33/79 |
| Epilepsy | 30.61 | 30/98 |
| Autism | 27.71 | 23/83 |
| Paternal | 26.47 | 18/68 |
| Maternal | 54.41 | 37/68 |
| De novo | 19.12 | 13/68 |
| Parental phenotype noticeable | 66.67 | 34/51 |
| Male | 55.56 | 45/81 |
| Female | 44.44 | 36/81 |
| OFC | ||
| P<25 | 26.09 | 18/69 |
| P25–75 | 53.62 | 37/69 |
| P>75 | 20.29 | 14/69 |
| Weight | ||
| P<25 | 14.29 | 8/56 |
| P25–75 | 64.29 | 36/56 |
| P>75 | 21.42 | 12/56 |
| Language problems | 75.34 | 55/73 |
| Hypotonia | 39.02 | 16/41 |
| Behavioral problems | 63.64 | 49/77 |
For a list of patients see online supplementary material 1. n/N = Affected/total patients.